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Updated: May 28, 2026

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Case Report: Recurrent pathogenic mutation c.110G>A in DHDDS gene.

Ci Liu1, Qiaoyu Ye2,3,4, Jie Li5

  • 1Prenatal Diagnosis Center, the Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

Frontiers in Neuroscience
|May 27, 2026
PubMed
Summary

Mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene are linked to epilepsy and neurodevelopmental disorders. This study details a patient case and reviews 59 others, highlighting clinical diversity and treatment responses.

Keywords:
DHDDSataxiaepilepsymyoclonuswhole exome sequencing (WES)

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